Klinefelter syndrome 1-2

Klinefelter syndrome 1/700.

Disjunction error during anaphase of meiosis.
Increase number of X chromosome in males.
44+XXXY XXY XXXXY
FEATURES. LONG LEGS. SMALL TESTES. STERILE. Development of breast. Poor facial and body hair. Diminished libido. High pitched voice
androgen deficiency. Secondary sexual characters Puri developed point growth and physical development normal. Vascular diseases and heart diseases possible.
Average intelligence but speech and language is affected. Mental disability increases with number of X chromosomes. FSH levels elevated.
1/700 birth. Older mothers have increased risk.

Turner syndrome. 1/2500

Complete or partial monosomy of X chromosome. Hypogonadism in females. Diagnosed at birth or early childhood.
45+X XXp XXq
Short stature. Sexual infantilism. Sterile and don't have uterus. Poorly developed sexual characteristics secondary. Ovary not developed. No ovum formation. Breast do not develop fully and Naples are widely spread. Webbed neck. Shield chest. Lo hair line on the neck. Short nails. Heart malformations.
Therapy with exclusion allows secondary sexual characteristics. Sterile married life.
Normal intelligence but mild mental impairment
1/2500 births.

Super female. 1/1000

More than 2 X chromosomes. Physically normal. Fertile. Menstrual irregularities and early onset of menopause.
Mental retardation possible and maybe severe.
1/950
Can be counted by genetic counselling and early abortion. No treatment

Non sex disorder

Down syndrome. 1/700

Trisomy 21
Resemblance with mongoloid.
Aneuploidy due to chromosome non this junction.
Features. Child is flaccid. Hypotonia or low muscle tone. Does not cry much in the newborn period. Short stature. Stubby hands. Broad and short trunk. Neck skin abundant.
Palm has simian crease. Triradius near the centre. Absence of pattern in thenar area. Digital loop between third and fourth digit.
food shows wide gap between first and second toe.
face is mongoloid. Broadhead round face white nostrils. Receding maxilla. Iris shows speckles
Low blood pressure at birth. Low immunity. Congenital heart deformities. 50% dai before first year of birth. Intelligence low and retardation.
1/700. Increases with rising age of mother.

Patau trisomy 13. 1/2200.

Edwards syndrome.1/ 4500

Flexed hand and clenched fingers. 2nd and 5th digit overlap with third and fourth point arches on 6 or more fingers in fingerprint. Deformity of feet. Intestine malformation
Face. Deformity of skull face and teeth. Abnormal or separate. Small and receding lower jaw. Small triangular mouth. Malformed ears
Heart defects. Low life expectancy. 50% survive for two months. Females survive longer.
Small head mental development ine complete. Mostly in females. Increase with mother's age
1/4500

Cri du chat.

Deletion on short arm of chromosome number 5
Inherited possible
peculiar we cry that resembles meaning of cat. Baby is very weak and small at birth. Microcephaly. Wide spaced eyes. Broad face and flat nose. very few survive with mental retardation. IQ 22:40.

Cannot be treated. Only abortion.